The two most common symptoms of mitochondrial disease are muscle weakness and exercise intolerance that leads to unusual feelings of exhaustion. People with mitochondrial diseases often have symptoms affecting three or more organs like the brain, nerves, heart, pancreas, liver, eyes, and kidneys which have high energy needs.
Mitochondrial diseases are broken into two main groups:
Primary Mitochondrial Disease occurs when changes, known as mutations, are identified in the genes of our mitochondrial responsible for creating energy (ATP). These conditions are inherited.
Secondary Mitochondrial Dysfunction causes similar mitochondrial dysfunction but the mutations occur in genes not involved in energy production. These conditions can be inherited or develop as a result of production of specific proteins, oxidative stress, harmful drugs or environmental factors.
Mitochondrial disease is difficult to diagnose and treat because it affects different people in different ways, can be inherited or acquired, is not well-known by the public or healthcare community, and there is no single, definitive test.